Canonical Allele Identifier: CA2825001473

Gene: ARID1B

Linked Data

• ClinVar Variation Id: 3129397
• ClinVar RCV Id: RCV004425263

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157148915dup , CM000668.2:g.157148915dup	GRCh38
NC_000006.11:g.157470049dup , CM000668.1:g.157470049dup	GRCh37
NC_000006.10:g.157511741dup	NCBI36
NG_032093.1:g.375986dup
NG_032093.2:g.375986dup
NG_066624.1:g.377890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350026.11:c.3053dup	ENSP00000055163.8:p.Val1019SerfsTer?
ENST00000414678.8:c.2963dup	ENSP00000412835.3:p.Val989SerfsTer?
ENST00000637015.2:c.3053dup	ENSP00000489729.2:p.Val1019SerfsTer17
ENST00000319584.11:c.1067dup	ENSP00000313006.7:p.Val357SerfsTer?
ENST00000346085.10:c.3092dup	ENSP00000344546.5:p.Val1032SerfsTer?
ENST00000350026.10:c.2804dup	ENSP00000055163.7:p.Val936SerfsTer?
ENST00000414678.7:c.1211dup	ENSP00000412835.2:p.Val405SerfsTer?
ENST00000452544.2:n.954dup
ENST00000635849.1:c.374dup	ENSP00000490948.1:p.Val126SerfsTer?
ENST00000635957.1:c.8dup	ENSP00000490385.1:p.Val4SerfsTer?
ENST00000636426.1:n.187dup
ENST00000636930.2:c.3053dup MANE Select	ENSP00000490491.2:p.Val1019SerfsTer?
ENST00000637015.1:c.292dup
ENST00000637568.1:c.96dup
ENST00000637810.1:c.554dup	ENSP00000489636.1:p.Val186SerfsTer?
ENST00000637904.1:c.554dup	ENSP00000490550.1:p.Val186SerfsTer?
ENST00000647938.1:c.2843dup	ENSP00000498155.1:p.Val949SerfsTer?
ENST00000674190.1:n.1802dup
ENST00000319584.10:c.1070dup	ENSP00000313006.6:p.Val358SerfsTer?
ENST00000346085.9:c.2843dup	ENSP00000344546.4:p.Val949SerfsTer?
ENST00000350026.9:c.2804dup	ENSP00000055163.7:p.Val936SerfsTer?
ENST00000400790.3:c.5dup	ENSP00000383596.3:p.Val3SerfsTer?
ENST00000414678.6:c.1211dup	ENSP00000412835.2:p.Val405SerfsTer?
ENST00000452544.1:n.900dup
ENST00000478761.3:c.126dup
NM_017519.2:c.2804dup	NP_059989.2:p.Val936SerfsTer?
NM_020732.3:c.2843dup	NP_065783.3:p.Val949SerfsTer?
XM_005267069.3:c.2804dup	XP_005267126.2:p.Val936SerfsTer?
XM_011535984.1:c.1754dup	XP_011534286.1:p.Val586SerfsTer17
XM_011535985.1:c.1574dup	XP_011534287.1:p.Val526SerfsTer17
XM_011535986.1:c.1334dup	XP_011534288.1:p.Val446SerfsTer17
XM_011535987.1:c.953dup	XP_011534289.1:p.Val319SerfsTer17
XM_011535988.1:c.-20+15708dup	XP_011534290.1:n.-20+15708dup
NM_001346813.1:c.2804dup	NP_001333742.1:p.Val936SerfsTer?
NM_001363725.1:c.554dup	NP_001350654.1:p.Val186SerfsTer?
XM_011535984.2:c.2885dup	XP_011534286.2:p.Val963SerfsTer17
XM_011535988.3:c.-20+15708dup	XP_011534290.1:n.-20+15708dup
XM_017011103.2:c.2885dup	XP_016866592.1:p.Val963SerfsTer?
XM_017011104.1:c.2885dup	XP_016866593.1:p.Val963SerfsTer?
XM_017011105.2:c.2885dup	XP_016866594.1:p.Val963SerfsTer17
XM_017011106.2:c.2885dup	XP_016866595.1:p.Val963SerfsTer?
XM_017011107.2:c.2705dup	XP_016866596.1:p.Val903SerfsTer?
XR_002956289.1:n.2968dup
NM_001363725.2:c.554dup	NP_001350654.1:p.Val186SerfsTer?
NM_001371656.1:c.3092dup	NP_001358585.1:p.Val1032SerfsTer?
NM_001374820.1:c.3092dup	NP_001361749.1:p.Val1032SerfsTer?
NM_001374828.1:c.3053dup MANE Select	NP_001361757.1:p.Val1019SerfsTer?
NM_017519.3:c.3053dup	NP_059989.3:p.Val1019SerfsTer?